| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135911895:135911895(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2463delG |
| AA Mutation |
p.Ile823LeufsTer5(p.I823Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324447 |
| Start |
135911938:135911938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782625354
|
| CDS Mutation |
c.2506C>T |
| AA Mutation |
p.Arg836Ter(p.R836*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAGE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135912891:135912891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2709A>C |
| AA Mutation |
p.Lys903Asn(p.K903N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135907821:135907821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1139C>T |
| AA Mutation |
p.Ala380Val(p.A380V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135910439:135910439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782604698
|
| CDS Mutation |
c.1889G>A |
| AA Mutation |
p.Arg630His(p.R630H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135906480:135906480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665T>C |
| AA Mutation |
p.Leu222Ser(p.L222S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135911263:135911263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2077T>C |
| AA Mutation |
p.Ser693Pro(p.S693P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135911879:135911879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2447C>T |
| AA Mutation |
p.Ser816Phe(p.S816F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324447 |
| Start |
135908863:135908863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1442-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|